A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763423



Internal ID10030773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:184642465..184688651hg38UCSC Ensembl
Innerchr4:185563619..185609805hg19UCSC Ensembl
Innerchr4:185800613..185846799hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3846187
hg1946187
hg1846187
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7030380
SamplesSW_0379
Known GenesCASP3, PRIMPOL
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2763423
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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